ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.44C>T (p.Ala15Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004015594 SCV004838420 uncertain significance Fabry disease 2024-07-10 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 15 of the GLA protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one female affected with intracerebral hemorrhage (PMID: 33663879). This variant has been identified in 1/21831 chromosomes in the general population by the Genome Aggregation Database (gnomAD). A different missense variant affecting the same codon, p.Ala15Glu, is considered to be disease-causing (ClinVar variation ID: 2138674), suggesting that alanine at this position is important for GLA protein function. The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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